{
    "disease_id": "DOID:0111536",
    "recommended_name": {
        "id": "DOID:0111536",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111536",
        "name": "Buschke-Ollendorff syndrome",
        "description": "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111536",
            "name": "BOS",
            "description": ""
        },
        {
            "id": "DOID:0111536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111536",
            "name": "dermatoosteopoikilosis",
            "description": ""
        },
        {
            "id": "DOID:0111536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111536",
            "name": "disseminated dermatofibrosis with osteopoikilosis",
            "description": ""
        },
        {
            "id": "DOID:0111536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111536",
            "name": "osteopathia condensans disseminata",
            "description": ""
        },
        {
            "id": "DOID:0111536",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111536",
            "name": "dermatofibrosis lenticularis disseminata with osteopoikilosis",
            "description": ""
        },
        {
            "id": "MONDO:0008157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008157",
            "name": "Buschke-Ollendorff syndrome",
            "description": "Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin."
        },
        {
            "id": "MONDO:0008157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008157",
            "name": "Buschke-Ollendorff syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008157",
            "name": "osteopoikilosis with or without melorheostosis",
            "description": ""
        },
        {
            "id": "MONDO:0008157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008157",
            "name": "Bos",
            "description": ""
        },
        {
            "id": "MONDO:0008157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008157",
            "name": "Buschke Ollendorff syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008157",
            "name": "dermatofibrosis, disseminated with osteopoikilosis",
            "description": ""
        },
        {
            "id": "MIM:166700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/166700",
            "name": "Buschke-Ollendorff syndrome",
            "description": "Buschke-Ollendorff syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111536"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111536",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111536",
            "categories": []
        },
        {
            "id": "MONDO:0008157",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008157",
            "categories": []
        },
        {
            "id": "MIM:166700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/166700",
            "categories": []
        }
    ],
    "proteins": [
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            "uniprot_ac": "A0A8M6Z3N0",
            "uniprot_id": "A0A8M6Z3N0_DANRE",
            "refseq_ac": "XP_017208279",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin b isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "elnb",
                    "type": "recommended"
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                    "name": "eln2",
                    "type": "synonym"
                },
                {
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                }
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                }
            ]
        },
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            "uniprot_ac": "A0A8N1TQS2",
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            "refseq_ac": "NP_001073532",
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            ],
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                    "name": "Elastin",
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                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
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                    "name": "elastin isoform 4 precursor",
                    "type": "synonym"
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            ],
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                {
                    "name": "elna",
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                },
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                },
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            ],
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                    "id": "0111536",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q9WU40-1",
            "uniprot_ac": "Q9WU40",
            "uniprot_id": "MAN1_MOUSE",
            "refseq_ac": "NP_001074662",
            "glycoprotein": "yes",
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                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein Man1",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "inner nuclear membrane protein Man1",
                    "type": "synonym"
                },
                {
                    "name": "integral inner nuclear membrane protein MAN1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lemd3",
                    "type": "recommended"
                },
                {
                    "name": "Lemd3",
                    "type": "synonym"
                },
                {
                    "name": "Man1",
                    "type": "synonym"
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            ],
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                    "id": "0111536",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54320-1",
            "uniprot_ac": "P54320",
            "uniprot_id": "ELN_MOUSE",
            "refseq_ac": "NP_031951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin precursor",
                    "type": "synonym"
                },
                {
                    "name": "tropoelastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eln",
                    "type": "recommended"
                },
                {
                    "name": "E030024M20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Eln",
                    "type": "synonym"
                }
            ],
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                    "id": "0111536",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111536"
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            ]
        },
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            "uniprot_canonical_ac": "Q9Y2U8-1",
            "uniprot_ac": "Q9Y2U8",
            "uniprot_id": "MAN1_HUMAN",
            "refseq_ac": "NP_001161086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein Man1",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "LEMD3/MKX fusion",
                    "type": "synonym"
                },
                {
                    "name": "MAN antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "inner nuclear membrane protein Man1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "inner nuclear membrane protein Man1",
                    "type": "synonym"
                },
                {
                    "name": "integral inner nuclear membrane protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LEMD3",
                    "type": "recommended"
                },
                {
                    "name": "LEMD3",
                    "type": "synonym"
                },
                {
                    "name": "MAN1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y2U8-1",
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                {
                    "id": "166700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/166700"
                },
                {
                    "id": "0111536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111536"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6GK62-1",
            "uniprot_ac": "A0A8I6GK62",
            "uniprot_id": "A0A8I6GK62_RAT",
            "refseq_ac": "NP_001177929",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein Man1",
                    "type": "recommended"
                },
                {
                    "name": "LEM domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "inner nuclear membrane protein Man1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Lemd3",
                    "type": "recommended"
                },
                {
                    "name": "Lemd3",
                    "type": "synonym"
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                {
                    "name": "RGD1561001",
                    "type": "synonym"
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                {
                    "id": "0111536",
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        },
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            "uniprot_canonical_ac": "Q99372-1",
            "uniprot_ac": "Q99372",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eln",
                    "type": "recommended"
                },
                {
                    "name": "Eln",
                    "type": "synonym"
                },
                {
                    "name": "RATTREL11",
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                },
                {
                    "name": "TREL11",
                    "type": "synonym"
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                    "name": "Trela26",
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                {
                    "id": "0111536",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111536"
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            "uniprot_canonical_ac": "Q7JRE4-1",
            "uniprot_ac": "Q7JRE4",
            "uniprot_id": "MAN1_DROME",
            "refseq_ac": "NP_001286812",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inner nuclear membrane protein Man1",
                    "type": "recommended"
                },
                {
                    "name": "CG3167-PC",
                    "type": "synonym"
                },
                {
                    "name": "LEM domain-containing protein Man1",
                    "type": "synonym"
                },
                {
                    "name": "MAN1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "MAN1-PC",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "MAN1",
                    "type": "recommended"
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                    "name": "BcDNA:LD24895",
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                },
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                    "name": "CG3167",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3167",
                    "type": "synonym"
                },
                {
                    "name": "MAN1",
                    "type": "synonym"
                },
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                    "name": "dMAN1",
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                    "name": "dMan1",
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                    "id": "0111536",
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            ]
        },
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            "uniprot_canonical_ac": "P15502-3",
            "uniprot_ac": "P15502",
            "uniprot_id": "ELN_HUMAN",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elastin",
                    "type": "recommended"
                },
                {
                    "name": "Tropoelastin",
                    "type": "synonym"
                },
                {
                    "name": "elastin isoform m precursor",
                    "type": "synonym"
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                {
                    "name": "tropoelastin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELN",
                    "type": "recommended"
                },
                {
                    "name": "ADCL1",
                    "type": "synonym"
                },
                {
                    "name": "ELN",
                    "type": "synonym"
                },
                {
                    "name": "SVAS",
                    "type": "synonym"
                },
                {
                    "name": "WBS",
                    "type": "synonym"
                },
                {
                    "name": "WS",
                    "type": "synonym"
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            ],
            "record_id": "P15502-3",
            "evidence": [
                {
                    "id": "0111536",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111536"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111536"
}